DHPLC mutation analysis of phenylketonuria

Molecular Genetics and Metabolism

Volumn 78, Issue 3, 2003, Pages 205-210

  Bräutigam, Saskia ^a   Kujat, Annegret ^a   Kirst, Peter ^a   Seidel, Joerg ^b   Umit Luleyap H ^c   Froster, Ursula G ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

^b FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^c CUKUROVA UNIVERSITY   (Turkey)

Author keywords

DHPLC; Mutation analysis; PAH gene; Phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; PHENYLKETONURIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0037340760     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00228-7     Document Type: Article

References (10)

1. Le Marechal C., Audrezet M.P., Quere I., Raguenes O., Langonne S., Ferec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (DHPLC): major implications for genetic counselling. Hum. Genet. 108:2001;290-298.
2. Roberts P.S., Jozwiak S., Kwiatkowski D.J., Dabora S.L. Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene. J. Biochem. Biophys. Methods. 47:2001;33-37.
3. Holinski-Feder E., Muller-Koch Y., Friedl W., Moeslein G., Keller G., Plaschke J., Ballhausen W., Gross M., Baldwin-Jedele K., Jungck M., Mangold E., Vogelsang H., Schackert H.K., Lohsea P., Murken J., Meitinger T. DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. J. Biochem. Biophys. Methods. 47:2001;21-32.
4. Kaler S.G., Devaney J.M., Pettit E.L., Kirshman R., Marino M.A. Novel method for molecular detection of the two common hereditary hemochromatosis mutations. Genet. Test. 4:2000;125-129. (doi: 10.1089/10906570050114821).
5. O'Donovan M.C., Oefner P.J., Roberts S.C., Austin J., Hoogendoorn B., Guy C., Speight G., Upadhyaya M., Sommer S.S., McGuffin P. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics. 52:1998;44-49. (doi: 10.1006/geno. 1998.5411).
6. Wagner T.M., Moslinger R.A., Muhr D., Langbauer G., Hirtenlehner K., Concin H., Doeller W., Haid A., Lang A.H., Mayer P., Ropp E., Kubista E., Amirimani B., Helbich T., Becherer A., Scheiner O., Breiteneder H., Borg A., Devilee P., Oefner P., Zielinski C. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int. J. Cancer. 77:1998;354-360.
7. Wagner T.M., Hirtenlehner K., Shen P., Moeslinger R., Muhr D., Fleischmann E., Concin H., Doeller W., Haid A., Lang A.H., Mayer P., Petru E., Ropp E., Langbauer G., Kubista E., Scheiner O., Underhill P., Mountain J., Stierer M., Zielinski C., Oefner P. Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum. Mol. Genet. 8:1999;413-423.
8. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215.
9. Xiao W., Oefner P.J. Denaturing high-performance liquid chromatography: a review. Hum. Mutat. 17:2001;439-474.
10. Hennermann J.B., Vetter B., Wolf C., Windt E., Buhrdel P., Seidel J., Monch E., Kulozik A.E. Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. Hum. Mutat. 15:2000;254-260.